DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Sarcosinemia ×

Variants associated to the Gene: SARDH ×

Results per page

Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs149481147	SARDH			9	133729820	missense variant	G/A	snv	1.0E-04	5.6E-05	1
rs397514504	SARDH			9	133733963	missense variant	C/A;T	snv	4.1E-06		1